13 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:7 | disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| DOID:4 | disease | A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
| DOID:863 | nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
| DOID:5614 | eye disease | An eye and adnexa disease that is located_in the eye. |
| DOID:0050155 | sensory system disease | A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). |
| DOID:3480 | uveal disease | An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. |
| DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
| DOID:240 | iris disease | |
| DOID:12271 | aniridia | An iris disease that is characterized by a complete or partial absence of the colored part of the eye. |
| DOID:0070532 | aniridia 1 | An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:12271 | DOID:0070532 |
| is_a | DOID:0050736 | DOID:0070532 |
| is_a | DOID:3480 | DOID:0070532 |
| is_a | DOID:630 | DOID:0070532 |
| is_a | DOID:0050177 | DOID:0070532 |
| is_a | DOID:0050155 | DOID:0070532 |
| is_a | DOID:4 | DOID:0070532 |
| is_a | DOID:240 | DOID:0070532 |
| is_a | DOID:5614 | DOID:0070532 |
| is_a | DOID:0050739 | DOID:0070532 |
| is_a | DOID:7 | DOID:0070532 |
| is_a | DOID:863 | DOID:0070532 |
